Craniosynostosis

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Craniosynostosis of at least one suture was present in 77% of 47 MPS individuals (types I,II,VI, VII). >3 with IDUA, IDS, ARSB variants.
Sources: Expert list
Created: 3 Jul 2020, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016

Publications

History Filter Activity

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idua has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idua has been classified as Green List (High Evidence).

3 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDUA was added gene: IDUA was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 23917744 Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016 Review for gene: IDUA was set to GREEN